LymphedemaV1, France, Analysis, bibRecord, 000159

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Identifieur interne : 000159 ( France/Analysis ); précédent : 000158; suivant : 000160

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Auteurs : Gabriela E. Jones [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Anthony T. Moore [Royaume-Uni] ; Fiona C. Connell [Royaume-Uni] ; Denise Williams [Royaume-Uni] ; Oliver Quarrell [Royaume-Uni] ; Angela F. Brady [Royaume-Uni] ; Isabel Spier [Allemagne] ; Filiz Hazan [Turquie] ; Oana Moldovan [Portugal] ; Dagmar Wieczorek [Allemagne] ; Barbara Mikat [Allemagne] ; Florence Petit [France] ; Christine Coubes [France] ; Robert A. Saul [États-Unis] ; Glen Brice [Royaume-Uni] ; Kristiana Gordon [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Pradeep C. Vasudevan [Royaume-Uni] ; Sahar Mansour [Royaume-Uni]

Source :

European Journal of Human Genetics [ 1018-4813 ] ; 2013.

RBID : PMC:3938398

Descripteurs français

KwdFr :
- Déficience intellectuelle (génétique), Famille, Femelle, Humains, Kinésine (génétique), Lymphoedème (génétique), Microcéphalie (génétique), Mutation, Mâle, Phénotype, Pénétrance, Rétinopathies (génétique), Études de cohortes.
MESH :
- génétique : Déficience intellectuelle, Kinésine, Lymphoedème, Microcéphalie, Rétinopathies.
- Famille, Femelle, Humains, Mutation, Mâle, Phénotype, Pénétrance, Études de cohortes.

English descriptors

KwdEn :
- Cohort Studies, Family, Female, Humans, Intellectual Disability (genetics), Kinesin (genetics), Lymphedema (genetics), Male, Microcephaly (genetics), Mutation, Penetrance, Phenotype, Retinal Diseases (genetics).
MESH :
- chemical , genetics : Kinesin.
- genetics : Intellectual Disability, Lymphedema, Microcephaly, Retinal Diseases.
- Cohort Studies, Family, Female, Humans, Male, Mutation, Penetrance, Phenotype.

Abstract

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified. Mutations in the kinesin family member 11 (KIF11) gene have now been described in 16 families worldwide. This is a review of the condition based on the clinical features of 37 individuals from 22 families. This report includes nine previously unreported families and additional information for some of those reported previously. The condition arose de novo in 8/20 families (40%). The parental results were not available for two probands. The mutations were varied and include missense, nonsense, frameshift, and splice site and are distributed evenly throughout the KIF11 gene. In our cohort, 86% had microcephaly, 78% had an ocular abnormality consistent with the diagnosis, 46% had lymphoedema, 73% had mild-moderate learning difficulties, 8% had epilepsy, and 8% had a cardiac anomaly. We identified three individuals with KIF11 mutations but no clinical features of MCLMR demonstrating reduced penetrance. The variable expression of the phenotype and the presence of mildly affected individuals indicates that the prevalence may be higher than expected, and we would therefore recommend a low threshold for genetic testing.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938398

DOI: 10.1038/ejhg.2013.263
PubMed: 24281367
PubMed Central: 3938398

Affiliations:

Allemagne, France, Portugal, Royaume-Uni, Turquie, États-Unis

Links to Exploration step

PMC:3938398

Le document en format XML

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, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Vasudevan, Pradeep C" sort="Vasudevan, Pradeep C" uniqKey="Vasudevan P" first="Pradeep C" last="Vasudevan">Pradeep C. Vasudevan</name>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with <italic>KIF11</italic>
 mutations</title>
<author><name sortKey="Jones, Gabriela E" sort="Jones, Gabriela E" uniqKey="Jones G" first="Gabriela E" last="Jones">Gabriela E. Jones</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>
, Leicester,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
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, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T" last="Moore">Anthony T. Moore</name>
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, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C" last="Connell">Fiona C. Connell</name>
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, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name>
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, Birmingham,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name>
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, Sheffield,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Brady, Angela F" sort="Brady, Angela F" uniqKey="Brady A" first="Angela F" last="Brady">Angela F. Brady</name>
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, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Spier, Isabel" sort="Spier, Isabel" uniqKey="Spier I" first="Isabel" last="Spier">Isabel Spier</name>
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, Bonn,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Hazan, Filiz" sort="Hazan, Filiz" uniqKey="Hazan F" first="Filiz" last="Hazan">Filiz Hazan</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Medical Genetics, Dr Behçet Uz Children's Hospital</institution>
, Izmir,<country>Turkey</country>
</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Moldovan, Oana" sort="Moldovan, Oana" uniqKey="Moldovan O" first="Oana" last="Moldovan">Oana Moldovan</name>
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, Lisbon,<country>Portugal</country>
</nlm:aff>
<country xml:lang="fr">Portugal</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
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, Essen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Mikat, Barbara" sort="Mikat, Barbara" uniqKey="Mikat B" first="Barbara" last="Mikat">Barbara Mikat</name>
<affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Institut für Humangenetik, Universitätsklinikum Essen, Universität Dusiburg-Essen</institution>
, Essen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name>
<affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Service de Genetique Clinique, Hôpital Jeanne de Flandre, Université Lille Nord de France</institution>
, Lille,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Department of Medical Genetics, Arnaud de Villeneuve's Hospital</institution>
, Montpellier,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Saul, Robert A" sort="Saul, Robert A" uniqKey="Saul R" first="Robert A" last="Saul">Robert A. Saul</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Children's Hospital (formerly Greenwood Genetic Center, Greenwood, SC, USA)</institution>
, Greenville, SC,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>
, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name>
<affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Department of Clinical Sciences, St George's University of London</institution>
, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Human Genetics Research Centre, Biomedical Sciences, St George's University of London</institution>
, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S" last="Mortimer">Peter S. Mortimer</name>
<affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Department of Clinical Sciences, St George's University of London</institution>
, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vasudevan, Pradeep C" sort="Vasudevan, Pradeep C" uniqKey="Vasudevan P" first="Pradeep C" last="Vasudevan">Pradeep C. Vasudevan</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Clinical Genetics Department, University Hospitals of Leicester NHS Trust</institution>
, Leicester,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust</institution>
, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">European Journal of Human Genetics</title>
<idno type="ISSN">1018-4813</idno>
<idno type="eISSN">1476-5438</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cohort Studies</term>
<term>Family</term>
<term>Female</term>
<term>Humans</term>
<term>Intellectual Disability (genetics)</term>
<term>Kinesin (genetics)</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Microcephaly (genetics)</term>
<term>Mutation</term>
<term>Penetrance</term>
<term>Phenotype</term>
<term>Retinal Diseases (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Déficience intellectuelle (génétique)</term>
<term>Famille</term>
<term>Femelle</term>
<term>Humains</term>
<term>Kinésine (génétique)</term>
<term>Lymphoedème (génétique)</term>
<term>Microcéphalie (génétique)</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Phénotype</term>
<term>Pénétrance</term>
<term>Rétinopathies (génétique)</term>
<term>Études de cohortes</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Kinesin</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Intellectual Disability</term>
<term>Lymphedema</term>
<term>Microcephaly</term>
<term>Retinal Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term>
<term>Kinésine</term>
<term>Lymphoedème</term>
<term>Microcéphalie</term>
<term>Rétinopathies</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Cohort Studies</term>
<term>Family</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Penetrance</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Famille</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Phénotype</term>
<term>Pénétrance</term>
<term>Études de cohortes</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified. Mutations in the kinesin family member 11 (<italic>KIF11</italic>
) gene have now been described in 16 families worldwide. This is a review of the condition based on the clinical features of 37 individuals from 22 families. This report includes nine previously unreported families and additional information for some of those reported previously. The condition arose <italic>de novo</italic>
 in 8/20 families (40%). The parental results were not available for two probands. The mutations were varied and include missense, nonsense, frameshift, and splice site and are distributed evenly throughout the <italic>KIF11</italic>
 gene. In our cohort, 86% had microcephaly, 78% had an ocular abnormality consistent with the diagnosis, 46% had lymphoedema, 73% had mild-moderate learning difficulties, 8% had epilepsy, and 8% had a cardiac anomaly. We identified three individuals with <italic>KIF11</italic>
 mutations but no clinical features of MCLMR demonstrating reduced penetrance. The variable expression of the phenotype and the presence of mildly affected individuals indicates that the prevalence may be higher than expected, and we would therefore recommend a low threshold for genetic testing.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>France</li>
<li>Portugal</li>
<li>Royaume-Uni</li>
<li>Turquie</li>
<li>États-Unis</li>
</country>
</list>
<tree><country name="Royaume-Uni"><noRegion><name sortKey="Jones, Gabriela E" sort="Jones, Gabriela E" uniqKey="Jones G" first="Gabriela E" last="Jones">Gabriela E. Jones</name>
</noRegion>
<name sortKey="Brady, Angela F" sort="Brady, Angela F" uniqKey="Brady A" first="Angela F" last="Brady">Angela F. Brady</name>
<name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C" last="Connell">Fiona C. Connell</name>
<name sortKey="Gordon, Kristiana" sort="Gordon, Kristiana" uniqKey="Gordon K" first="Kristiana" last="Gordon">Kristiana Gordon</name>
<name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T" last="Moore">Anthony T. Moore</name>
<name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S" last="Mortimer">Peter S. Mortimer</name>
<name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
<name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name>
<name sortKey="Vasudevan, Pradeep C" sort="Vasudevan, Pradeep C" uniqKey="Vasudevan P" first="Pradeep C" last="Vasudevan">Pradeep C. Vasudevan</name>
<name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Spier, Isabel" sort="Spier, Isabel" uniqKey="Spier I" first="Isabel" last="Spier">Isabel Spier</name>
</noRegion>
<name sortKey="Mikat, Barbara" sort="Mikat, Barbara" uniqKey="Mikat B" first="Barbara" last="Mikat">Barbara Mikat</name>
<name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name>
</country>
<country name="Turquie"><noRegion><name sortKey="Hazan, Filiz" sort="Hazan, Filiz" uniqKey="Hazan F" first="Filiz" last="Hazan">Filiz Hazan</name>
</noRegion>
</country>
<country name="Portugal"><noRegion><name sortKey="Moldovan, Oana" sort="Moldovan, Oana" uniqKey="Moldovan O" first="Oana" last="Moldovan">Oana Moldovan</name>
</noRegion>
</country>
<country name="France"><noRegion><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name>
</noRegion>
<name sortKey="Coubes, Christine" sort="Coubes, Christine" uniqKey="Coubes C" first="Christine" last="Coubes">Christine Coubes</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="Saul, Robert A" sort="Saul, Robert A" uniqKey="Saul R" first="Robert A" last="Saul">Robert A. Saul</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

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